Canonical Allele Identifier: CA405686854

Gene: RYR1

Linked Data

• MyVariant Identifiers: chr19:g.39070637G>T (hg19) ; chr19:g.38579997G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.38579997G>T , CM000681.2:g.38579997G>T	GRCh38
NC_000019.9:g.39070637G>T , CM000681.1:g.39070637G>T	GRCh37
NC_000019.8:g.43762477G>T	NCBI36
NG_008866.1:g.151298G>T , LRG_766:g.151298G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000593677.2:c.1316G>T
ENST00000688602.1:c.2713G>T
ENST00000689936.1:c.2685G>T
ENST00000359596.8:c.14380G>T MANE Select	ENSP00000352608.2:p.Gly4794Cys
ENST00000355481.8:c.14365G>T	ENSP00000347667.3:p.Gly4789Cys
ENST00000359596.7:c.14380G>T	ENSP00000352608.2:p.Gly4794Cys
ENST00000360985.7:c.14362G>T	ENSP00000354254.4:p.Gly4788Cys
NM_000540.2:c.14380G>T , LRG_766t1:c.14380G>T	NP_000531.2:p.Gly4794Cys
NM_001042723.1:c.14365G>T	NP_001036188.1:p.Gly4789Cys
XM_006723317.1:c.14362G>T	XP_006723380.1:p.Gly4788Cys
XM_006723319.1:c.14347G>T	XP_006723382.1:p.Gly4783Cys
XM_011527204.1:c.14377G>T	XP_011525506.1:p.Gly4793Cys
XM_011527205.1:c.14293G>T	XP_011525507.1:p.Gly4765Cys
XM_006723317.2:c.14362G>T	XP_006723380.1:p.Gly4788Cys
XM_006723319.2:c.14347G>T	XP_006723382.1:p.Gly4783Cys
XM_011527205.2:c.14293G>T	XP_011525507.1:p.Gly4765Cys
NM_000540.3:c.14380G>T MANE Select	NP_000531.2:p.Gly4794Cys
NM_001042723.2:c.14365G>T	NP_001036188.1:p.Gly4789Cys